Results 41 to 50 of about 452 (111)

Pyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK/HK Ratio. [PDF]

Int J Mol Sci
Koleva L, Dolgikh IA, Kryukova AV, Prudinnik DS, Bovt EA, Shakhidzhanov SS, Mann SG, Smetanina NS, Ataullakhanov FI, Sinauridze EI.   +9 more
europepmc   +1 more source

Autosomal dominant <i>HK1</i>-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder. [PDF]

Genet Med Open
Ng BG, Eklund EA, Rosenfeld JA, Elias AF, Abu-El-Haija A, Bris C, Barth M, Chae JH, Choi M, Dubbs HA, Fratter C, Foulds N, Gamble C, Gavrilova RH, Haven J, Hoffman TL, Hunter JV, Larson A, Lotze TE, Magoulas P, Magness EC, Bootin DM, Marsh ED, Nesbitt V, Pastore MT, Poulton J, Rahman S, Scaglia F, Murali C, Posey J, Rotenberg J, Schmalz B, Shinde DN, Powis Z, Sukenik-Halevy R, Truxal KV, Uster T, Machado Bressan Wilke MV, Klee E, Woo H, Younkin D, Zhao J, Granadillo J, Lalani S, Chitayat D, Chung WK, Freeze HH, Okur V.   +47 more
europepmc   +1 more source

Severe Hemolytic Anemia: Atypical Presentation of Cobalamin Deficiency. [PDF]

J Pediatr Hematol Oncol
Fraga C, Losa A, Cascais I, Garrido C, Lachado A, Couto Guerra I, Bandeira A, Cleto E, Costa E.   +8 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases. [PDF]

Prenat Diagn
Bedei I, Feresin A, Zemet R, Berner D, Polidori D, Fröbius K, Skakkebæk A, Axt-Fliedner R, Shoukier M, Keil C.   +9 more
europepmc   +1 more source

A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population. [PDF]

Hum Mutat
Younis NS, Alkabsh RM, Nasser Alqahtani SM, Aljuail H, Alhashim MA, Bokhamsin SA, Albaqshi LJ, Alqadhib SF, Aldandan JA, Alshakhs ZA, Altaweel MH, Mohamed ME.   +11 more
europepmc   +1 more source

Glutathione Reductase Deficiency: A Rare Cause of Congenital Nonspherocytic Hemolytic Anemia

Indian Pediatrics
Shipla Roy, Tuphan Kanti Dolai, Kaustav Ghosh   +2 more
openaire   +1 more source

Exacerbation of Hyperbilirubinemia by Falciparum Malaria in a Patient With Coexisting Gilbert's Syndrome and Glucose-6-Phosphate Dehydrogenase Deficiency. [PDF]

Cureus
Mon HY, Alemayehu H, Pampapathi K, Oyibo SO.   +3 more
europepmc   +1 more source

Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, TPI1^R5G. [PDF]

Genes (Basel)
Figura JR, Roberts P, Sawka R, Chambers M, Claudio M, Vollmer LL, Vogt A, Homanics GE, van Beers E, Donge M, Scalais E, Sorlin A, Jou AJ, VanDemark AP, Palladino MJ.   +14 more
europepmc   +1 more source

Transition from acute kidney injury to chronic kidney disease in a long-term murine model of Shiga toxin-induced hemolytic-uremic syndrome. [PDF]

Front Immunol
Wegener J, Dennhardt S, Loeffler I, Coldewey SM.   +3 more
europepmc   +1 more source

Evaluation of Glucose 6-Phosphate Dehydrogenase, Pyruvate Kinase, and New Generation Inflammation Biomarkers in Prolonged Neonatal Jaundice. [PDF]

Medicina (Kaunas)
Okuyan O, Dumur S, Elgormus N, Uzun H.
europepmc   +1 more source